neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia

An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Short stature
• Cerebellar atrophy
• Cerebral cortical atrophy
• Hypotonia
• Delayed fine motor development
• Severe intellectual disability
• Motor stereotypy
• Atrophy/Degeneration affecting the brainstem
• Ventriculomegaly

Also known as: NEDMEBA